Publications by authors named "A V M Nijenhuis"
Desmoplakin (DSP) is a desmosomal component expressed in skin and heart, essential for desmosome stability and intermediate filament connection. Pathogenic variants in the DSP gene encoding DSP, lead to heterogeneous skin, adnexa and heart-related phenotypes, including skin fragility, woolly hair (WH), palmoplantar keratoderma (PPK) and arrhythmogenic/dilated cardiomyopathy (ACM/DCM). The ambiguity of computer-based prediction analysis of pathogenicity and effect of DSP variants, indicates a necessity for functional analysis.
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- Epidermolysis bullosa (EB) is a genetic skin condition that causes blistering due to mutations in proteins that help bind skin layers together.
- A study tracked 15 patients with recessive dystrophic or junctional EB, analyzing their blood for autoantibodies related to autoimmune blistering diseases.
- Results showed that patients with recessive dystrophic EB had a significantly higher chance (70%) of developing these autoantibodies compared to those with junctional EB (20%), with reactivity most notably against specific collagen types and other proteins.